Brief description using keywords of the current lines of
investigation:
Enteric Nervous system alterations.
Hirschsprung's disease as a model for polygenic diseases
and Intestinal Neuronal Dysplasia.
Keywords: Hirschsprung's disease, RET proto-oncogene,
susceptibility factors, complex model of disease, "HSCR Haplotype",
susceptibility loci, intestinal neuronal dysplasia.
Thyroid cancer
Keywords: Multiple Endocrine Neoplasia type 2, medullary thyroid
cancer, papillary thyroid cancer, sporadic tumors; germinal
mutations at RET; modifier factors; molecular and functional
characterization.
Genetic Mental Retardation syndromes
Keywords: Mental retardation, cryptic chromosomal anomalies, MLPA,
molecular karyotyping, microarrays, SNPs
Spinal Muscular Atrophy
Keywords: SMA; SMN1; SMN2; genotype-phenotype correlation.
